Table 1.

Relationship of E2-ESR1 to breast cancer driver genes with point mutations

Point mutations
GenesChromoSubstitutionInsertion/deletionTotalE2-ESR1 regulationReferences
TP531717052222Cross-talk(18)
PIK3CA31648172Cross-talk(19)
GATA31045054GATA3 is ESR1 coactivator(20)
MAP3K1564349MAP3K1 activates ESR1(21)
MLL37142236MLL3 is ESR1 coactivator(22)
CDH116151934E2-ESR1 downregulates CDH1(23)
PTEN10151833E2-ESR1 downregulates PTEN(24)
RB11312921RB1 controls ESR1 stability/activity(25)
ARID1A151217
CBFB1611415RUNX1-CBFB is ESR1 corepressor(26)
AKT11414014AKT1 is ESR1 coactivator(27)
SF3B1213013
SPEN16713SPEN1 is ESR1 corepressor(28)
TBX31231013E2-ESR1 upregulates TBX3(29)
NCOR1176612E2-ESR1 downregulates NCOR1(30)
BRCA2136410E2-ESR1 upregulates BRCA2(5)
PIK3R151910E2-ESR1 upregulates PIK3R1(31)
NF117639
MLLT46268
ERBB217617E2-ESR1 downregulates ERBB2(4)
FOXA114707E2-ESR1 downregulates FOXA1(5)
MAP2K417437E2-ESR1 upregulates MAP2K4(32)
MED236347
NOTCH21516E2 downregulates NOTCH2(33)
BRCA117325E2-ESR1 upregulates BRCA1(5)
CTCF16505Cross-talk(34)
KDM6AX325
MLL212235MLL2 is ESR1 coactivator(35)
SETD23325
ARID1B6224
CREBBP16224CREBBP is ESR1 coactivator(36)
FOXP13314E2-ESR1 upregulates FOXP1(37)
RUNX121134RUNX1 is ESR1 corepressor(38)
USP9XX044USP9X binds ESR1 for cofactor recruitment(39)
XBP122044E2-ESR1 upregulates XBP1(4)
ATR3123E2 blocks ATR via membrane ESR1(40)
CDKN2A9303
ERBB312303E2-ESR1 downregulates ERBB2(5)
ESR16303E2-ESR1 downregulates ESR1(4)
FBXW74303
PALB216123
RHOA3303E2-ESR1 upregulates RHOA(32)
ATM11202ESR1 downregulates ATM through miRNAs(7)
ATRXX202
AXIN116112E2-ESR1 downregulates Axin1(41)
BCORX202
CDKN1B12202
CUX17202
DNMT3A2112
EGFR7202Cross-talk(42)
GNAS20202
MLH13112E2-ESR1 downregulates MLH1(43)
MSH22202E2-ESR1 upregulates MSH2(4)
NOTCH19022Cross-talk(44)
PHF6X112
SMAD418112SMAD4 is ESR1 corepressor(45)
SMARCA419112SMARCA4 (BRG1) is ESR1 coactivator(46)
STAG2X112
ZFP36L114022E2-ESR1 downregulates ZFP36L1(4)
AKT219101Cross-talk(47)
APC5011E2-ESR1 upregulates APC(48)
ASXL120011ESR1-ASXL1 binding(49)
BRAF7101
BUB1B15011E2-ESR1 upregulates BUB1B(5)
CASP82101
CBLB3011E2-ESR1 downregulates CBLB(5)
CIC19101
CNOT319101CNOT3 is ESR1 corepressor(50)
ECT2L6101
ERCC416101
FGFR210101E2-ESR1 upregulates FGFR2(51)
HRAS11101HRAS-EGFR estrogenic effect(52)
KRAS12101E2-ESR1 downregulates KRAS(53)
MEN111011MEN1 is ESR1 coactivator(54)
NF222101
NRAS1101E2-ESR1 upregulates NRAS(4)
PBRM13011
PMS27101
PRDM16101PRDM1 (BLIMP1) is ESR1 corepressor(55)
PREX28101
STK1119101STK11 (LKB1) is ESR1 coactivator(56)
TET24101
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